Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing

Christopher J. Mcnamara; Laura A. Limone; Thomas Westover; Richard C. Miller

doi:10.1097/AOG.0000000000000547

Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing

Christopher J. Mcnamara
, Laura A. Limone
, Thomas Westover
, Richard C. Miller

Research output: Contribution to journal › Article › peer-review

Abstract

BACKGROUND:: The intent of noninvasive prenatal testing is to screen for fetal aneuploidies. The assumption is that overrepresented and underrepresented chromosomes are of fetal origin. However, this is not always the case. CASES:: We report three cases in which maternal sex chromosome aneuploidy (confirmed by karyotype), two cases of which were previously unknown, resulted in false-positive results. In each, results were positive for fetal aneuploidy, but neonatal karyotypes confirmed normal karyotype. CONCLUSION:: Noninvasive prenatal testing assesses the proportion of chromosomes 21, 18, 13, and sex chromosomes in maternal circulation. Intrinsic to the analysis is that the underrepresentations and overrepresentations are of fetal origin. We present three cases in which this assumption is not valid. We suggest that maternal sex chromosome aneuploidy be considered when results suggest fetal sex chromosome aneuploidies.

Original language	American English
Pages (from-to)	390-392
Number of pages	3
Journal	Obstetrics and gynecology
Volume	125
Issue number	2
DOIs	https://doi.org/10.1097/AOG.0000000000000547
State	Published - Feb 6 2015
Externally published	Yes

ASJC Scopus subject areas

Obstetrics and Gynecology

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10.1097/AOG.0000000000000547

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title = "Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing",

abstract = "BACKGROUND:: The intent of noninvasive prenatal testing is to screen for fetal aneuploidies. The assumption is that overrepresented and underrepresented chromosomes are of fetal origin. However, this is not always the case. CASES:: We report three cases in which maternal sex chromosome aneuploidy (confirmed by karyotype), two cases of which were previously unknown, resulted in false-positive results. In each, results were positive for fetal aneuploidy, but neonatal karyotypes confirmed normal karyotype. CONCLUSION:: Noninvasive prenatal testing assesses the proportion of chromosomes 21, 18, 13, and sex chromosomes in maternal circulation. Intrinsic to the analysis is that the underrepresentations and overrepresentations are of fetal origin. We present three cases in which this assumption is not valid. We suggest that maternal sex chromosome aneuploidy be considered when results suggest fetal sex chromosome aneuploidies.",

author = "Mcnamara, \{Christopher J.\} and Limone, \{Laura A.\} and Thomas Westover and Miller, \{Richard C.\}",

note = "Publisher Copyright: {\textcopyright} 2015 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc.",

year = "2015",

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doi = "10.1097/AOG.0000000000000547",

language = "American English",

volume = "125",

pages = "390--392",

journal = "Obstetrics and gynecology",

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TY - JOUR

T1 - Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing

AU - Mcnamara, Christopher J.

AU - Limone, Laura A.

AU - Westover, Thomas

AU - Miller, Richard C.

PY - 2015/2/6

Y1 - 2015/2/6

N2 - BACKGROUND:: The intent of noninvasive prenatal testing is to screen for fetal aneuploidies. The assumption is that overrepresented and underrepresented chromosomes are of fetal origin. However, this is not always the case. CASES:: We report three cases in which maternal sex chromosome aneuploidy (confirmed by karyotype), two cases of which were previously unknown, resulted in false-positive results. In each, results were positive for fetal aneuploidy, but neonatal karyotypes confirmed normal karyotype. CONCLUSION:: Noninvasive prenatal testing assesses the proportion of chromosomes 21, 18, 13, and sex chromosomes in maternal circulation. Intrinsic to the analysis is that the underrepresentations and overrepresentations are of fetal origin. We present three cases in which this assumption is not valid. We suggest that maternal sex chromosome aneuploidy be considered when results suggest fetal sex chromosome aneuploidies.

AB - BACKGROUND:: The intent of noninvasive prenatal testing is to screen for fetal aneuploidies. The assumption is that overrepresented and underrepresented chromosomes are of fetal origin. However, this is not always the case. CASES:: We report three cases in which maternal sex chromosome aneuploidy (confirmed by karyotype), two cases of which were previously unknown, resulted in false-positive results. In each, results were positive for fetal aneuploidy, but neonatal karyotypes confirmed normal karyotype. CONCLUSION:: Noninvasive prenatal testing assesses the proportion of chromosomes 21, 18, 13, and sex chromosomes in maternal circulation. Intrinsic to the analysis is that the underrepresentations and overrepresentations are of fetal origin. We present three cases in which this assumption is not valid. We suggest that maternal sex chromosome aneuploidy be considered when results suggest fetal sex chromosome aneuploidies.

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DO - 10.1097/AOG.0000000000000547

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SN - 0029-7844

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JO - Obstetrics and gynecology

JF - Obstetrics and gynecology

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ER -

Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing

Abstract

ASJC Scopus subject areas

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